Variant report

Variant	rs135643
Chromosome Location	chr22:28539074-28539075
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10483141	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483148	0.90[AMR][1000 genomes]
rs135637	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs135641	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135642	1.00[ASN][1000 genomes]
rs135644	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135645	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs135647	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs135649	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135655	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135659	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985862	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985870	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985909	0.81[AMR][1000 genomes]
rs16985925	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985933	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985951	0.90[AMR][1000 genomes]
rs16986244	0.90[AMR][1000 genomes]
rs16986248	0.90[AMR][1000 genomes]
rs16986251	0.90[AMR][1000 genomes]
rs16986254	0.90[AMR][1000 genomes]
rs16986257	0.90[AMR][1000 genomes]
rs16986266	0.90[AMR][1000 genomes]
rs17391737	0.90[AMR][1000 genomes]
rs17481471	0.90[AMR][1000 genomes]
rs17482652	0.90[AMR][1000 genomes]
rs17483227	0.90[AMR][1000 genomes]
rs17483998	0.90[AMR][1000 genomes]
rs2038286	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345011	0.81[AMR][1000 genomes]
rs2881204	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5752697	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7286237	0.90[AMR][1000 genomes]
rs7290640	0.90[AMR][1000 genomes]
rs731050	1.00[ASN][1000 genomes]
rs8135697	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
3	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
4	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
5	chr22:28534600-28541000	Enhancers	Fetal Stomach	stomach
6	chr22:28535400-28539400	Enhancers	HMEC	breast
7	chr22:28535400-28541200	Enhancers	Colon Smooth Muscle	Colon
8	chr22:28535600-28539200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:28535600-28540400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:28535800-28540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:28535800-28540400	Enhancers	Fetal Heart	heart
12	chr22:28535800-28540800	Enhancers	Rectal Smooth Muscle	rectum
13	chr22:28536000-28542200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:28536000-28544400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:28536200-28542400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
17	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:28536400-28542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:28536800-28543800	Enhancers	Fetal Brain Female	brain
20	chr22:28537000-28539800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:28537200-28541000	Enhancers	Fetal Kidney	kidney
22	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:28537400-28539400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:28537400-28542400	Weak transcription	Right Ventricle	heart
25	chr22:28537600-28539400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:28538000-28539200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:28538000-28539400	Enhancers	Ovary	ovary
28	chr22:28538000-28539400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:28538000-28542200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:28538200-28539200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr22:28538200-28539400	Enhancers	Brain Cingulate Gyrus	brain
32	chr22:28538200-28539800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:28538200-28540200	Enhancers	Brain Anterior Caudate	brain
34	chr22:28538400-28539200	Enhancers	Brain Germinal Matrix	brain
35	chr22:28538400-28539200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr22:28538400-28539800	Enhancers	Brain Hippocampus Middle	brain
37	chr22:28538400-28540200	Enhancers	HSMM	muscle
38	chr22:28538400-28540600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:28538400-28540800	Weak transcription	Lung	lung
40	chr22:28538400-28540800	Enhancers	NHLF	lung
41	chr22:28538400-28543600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:28538400-28544800	Weak transcription	Dnd41	blood
43	chr22:28538600-28539200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:28538600-28539200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:28538600-28539200	Enhancers	Stomach Smooth Muscle	stomach
46	chr22:28538600-28539200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr22:28538600-28539600	Enhancers	Brain Angular Gyrus	brain
48	chr22:28538600-28540600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:28538600-28540800	Enhancers	Adipose Nuclei	Adipose
50	chr22:28538800-28539200	Enhancers	Fetal Intestine Small	intestine

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